HSD17B1 (hydroxysteroid 17-beta dehydrogenase 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3292
Gene name Hydroxysteroid 17-beta dehydrogenase 1
Gene symbol HSD17B1
Synonyms (NCBI Gene)
17-beta-HSD20-alpha-HSDE2DHEDH17B2EDHB17HSD17SDR28C1
Chromosome 17
Chromosome location 17q21.2
Summary This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentra
miRNA miRNA information provided by mirtarbase database.
11
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
miRTarBase ID miRNA Experiments Reference
MIRT053179 hsa-miR-210-3p Luciferase reporter assayqRT-PCR 22203747
MIRT053180 hsa-miR-518c-3p Luciferase reporter assayqRT-PCR 22203747
MIRT2245031 hsa-miR-1208 CLIP-seq
MIRT2245032 hsa-miR-149 CLIP-seq
MIRT2245033 hsa-miR-3064-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
GATA3 Repression 9231796
SP1 Activation 9231796
TFAP2A Repression 9231796
TFAP2A Unknown 10419022
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity TAS 8547176
GO:0004303 Function Estradiol 17-beta-dehydrogenase [NAD(P)+] activity IBA
GO:0004303 Function Estradiol 17-beta-dehydrogenase [NAD(P)+] activity IDA 4396689, 8994190, 9525918, 10625652
GO:0004303 Function Estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
GO:0005496 Function Steroid binding IDA 4396689
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
109684 5210 ENSG00000108786
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14061
Protein name 17-beta-hydroxysteroid dehydrogenase type 1 (17-beta-HSD 1) (EC 1.1.1.51) (20 alpha-hydroxysteroid dehydrogenase) (20-alpha-HSD) (E2DH) (Estradiol 17-beta-dehydrogenase 1) (EC 1.1.1.62) (Placental 17-beta-hydroxysteroid dehydrogenase) (Short chain dehydro
Protein function Favors the reduction of estrogens and androgens. Converts estrone (E1) to a more potent estrogen, 17beta-estradiol (E2) (PubMed:8994190). Also has 20-alpha-HSD activity. Uses preferentially NADH.
PDB 1A27 , 1BHS , 1DHT , 1EQU , 1FDS , 1FDT , 1FDU , 1FDV , 1FDW , 1I5R , 1IOL , 1JTV , 1QYV , 1QYW , 1QYX , 3DEY , 3DHE , 3HB4 , 3HB5 , 3KLM , 3KLP , 3KM0 , 6CGC , 6CGE , 6DTP , 6MNC , 6MNE , 7X3Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00106 adh_short 4 → 201 short chain dehydrogenase Domain
Sequence
Sequence length 328
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Steroid hormone biosynthesis
Metabolic pathways
Ovarian steroidogenesis 		  Estrogen biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (6)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (72)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 8541234
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 23065993
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 23132791
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Diseases Metabolic Bone disease Pubtator 21092186 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Cancer, Familial Breast Cancer BEFREE 7829082, 8125484
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 11212283, 12527905, 12584742, 14973105, 16489054, 16541304, 17457667, 18083510, 18483327, 18843021, 19729830, 20151320, 21193039, 22199302, 23430226
View all (10 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Diseases Breast Diseases BEFREE 18483327
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Diseases Breast disease Pubtator 20682005 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 11212283, 16311626, 18483327, 19308726, 19679043, 19729830, 20172961, 22691413, 25966904, 29790386, 35745085 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Male Male breast neoplasms Pubtator 23096432 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only